Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.030 GeneticVariation disease BEFREE Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. 30124986 2019
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.030 GeneticVariation disease BEFREE Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis. 15211439 2004
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.030 GeneticVariation disease BEFREE We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. 12938018 2003